Canonical Allele Identifier: CA364642165

Gene: LCA5

Linked Data

• dbSNP Id: rs2127666980
• MyVariant Identifiers: chr6:g.80198788C>T (hg19) ; chr6:g.79489071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79489071C>T , CM000668.2:g.79489071C>T	GRCh38
NC_000006.11:g.80198788C>T , CM000668.1:g.80198788C>T	GRCh37
NC_000006.10:g.80255507C>T	NCBI36
NG_016011.1:g.53360G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.1231+13G>A MANE Select	ENSP00000358861.4:n.1231+13G>A
ENST00000369846.8:c.1231+13G>A	ENSP00000358861.4:n.1231+13G>A
ENST00000392959.5:c.1231+13G>A	ENSP00000376686.1:n.1231+13G>A
ENST00000467898.3:c.1244G>A	ENSP00000474463.1:p.Ser415Asn
NM_001122769.2:c.1231+13G>A	NP_001116241.1:n.1231+13G>A
NM_181714.3:c.1231+13G>A	NP_859065.2:n.1231+13G>A
XM_005248665.3:c.1231+13G>A	XP_005248722.1:n.1231+13G>A
XM_011535504.1:c.1231+13G>A	XP_011533806.1:n.1231+13G>A
XR_942715.1:n.1182C>T
XR_942716.1:n.1144C>T
XR_942717.1:n.1416C>T
XM_005248665.4:c.1231+13G>A	XP_005248722.1:n.1231+13G>A
XR_001744213.1:n.2807C>T
XR_001744214.1:n.2769C>T
NM_001122769.3:c.1231+13G>A MANE Select	NP_001116241.1:n.1231+13G>A
NM_181714.4:c.1231+13G>A	NP_859065.2:n.1231+13G>A